• Clinical and Experimental Pediatrics
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• v.56 no.12
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• pp.540-544
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• 2013

Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke. Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported in children; however, Down syndrome with multiple neurologic conditions is rare. Here, we have reported a case of Down syndrome in a 10-year-old girl who presented with asymptomatic moyamoya syndrome, atlantoaxial subluxation with spinal cord compression, and basal ganglia calcification. To the best of our knowledge, this is the first report of Down syndrome, in a child, which was accompanied by these 3 neurologic complications simultaneously. As seen in this case, patients with Down syndrome may have neurologic conditions without any obvious neurologic symptoms; hence, patients with Down syndrome should be carefully examined for the presence of neurologic conditions.

• Korean Journal of Applied Biomechanics
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• v.29 no.3
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• pp.137-143
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• 2019

Objective: Ligament laxity and hypotonia are characteristics of Down syndrome patients. The aim of this study was to compare the landing pattern between Down syndrome patients and typically developing subjects. To compare the landing pattern, variables related to ligament laxity and hypotonia i.e. vertical stiffness and lower extremities kinematics were investigated. Method: Five subjects with Down syndrome (age: $14.6{\pm}1.8years$, mass: $47.6{\pm}6.94kg$, height: $147.9{\pm}6.0cm$) and six able-bodied subjects (age: $13.2{\pm}0.4years$, mass: $54.7{\pm}6.7kg$, height: $160.1{\pm}9.8cm$) participated in this study. Results: The vertical displacement of the center of mass, vertical reaction force, leg stiffness and range of ankle angle range among Down syndrome patients were significantly different than typically developing group. The youth with Down's syndrome appeared to receive greater vertical impact force at landing than normal youth. Conclusion: The differences in the biomechanical characteristics suggest the delay in motor development among Down syndrome patients and an increased risk of injury to the lower extremity during movement execution such as drop landing.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.16-20
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• 2020

Purpose: Duodenal atresia (DA) and atrioventricular septal defect (AVSD) are well known ultrasonographic findings associated with Down syndrome. The risk of Down syndrome in fetuses with these anomalies has been reported as 30% to 40%. However, on the basis of our clinical experience, the risk of Down syndrome of DA may be lower in Korean population. To clarify this issue, we compared the risk of Down syndrome between cases with DA and AVSD. Materials and Methods: The study population consisted of neonates who were confirmed as DA or AVSD by postnatal diagnosis. Postnatal diagnosis was made by surgery, postnatal echocardiography, or autopsy. Medical record was reviewed retrospectively. Results: A total of 213 neonates with DA or AVSD were included: 67 cases with DA and 146 cases with AVSD. The risk of Down syndrome was 4.5% (3/67) in DA vs. 29.5% (43/146) in AVSD. When confining analysis to those whose karyotyping were not performed during antenatal period, the risk of Down syndrome were 7.9% (3/38) in DA and 35.4% (35/99) in AVSD. Conclusion: The risk of Down syndrome in cases with DA was much lower in Korean population than previously reported risk in the literature. The significance of some antenatal sonographic markers for Down syndrome may be different according to ethnicity.

• Journal of Korean Clinical Nursing Research
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• v.14 no.2
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• pp.19-29
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• 2008

Purpose: The purpose of this study was to explore mothers' adjustments in raising children with Down syndrome and to develop a grounded theory about their adjustments. Method: Three mothers from each group of children in the ages below 7 years, 8-13 years, 14-19 years, and over 20 years participated in the study. Data were collected through an in-depth interview from twelve participants having a child with Down syndrome. Then it was analyzed simultaneously using the grounded theory method. Results: 'Adjustment of mother's expectation according to child's status' was emerged as a core category. The adjustment process was categorized into five stages: shocking, embracing, doing one's best with passion, lowering anticipation, and accepting another living. Conclusion: Being the mother of a child with Down syndrome is not considered to be a negative experience. There are positive experiences along with some more negative ones. Nurses working with families that include children with Down syndrome need to be aware of the obstacles the families will face and should advise necessary support.

• The Journal of Pediatrics of Korean Medicine
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• v.26 no.4
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• pp.61-70
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• 2012

Objectives: Literature Study of clinical cases with Traditional Chinese Medicine (TCM) as reference for Korean medicine based treatment of juvenile patients with Down's syndrome. Methods: 4 TCM journals with the highest impact factors were searched and selected among the journals listed in www.cnki.net. The search keywords were "蒙古症", "唐氏症(産生唐氏症)", "唐氏症候群", "先天愚型", "伸舌樣痴呆", "21三体綜合徵", "三染色体症", "Down's syndrome", and "Mongolism". Accordingly, searched papers were analyzed. Results: Total 6 studies were selected: RCT(5), case report(1). Among the RCT related studies, 2 studies tested the effect of Electroacupuncture (電鍼), 1 study tested the effect of Electroacupuncture and Pharmacopuncture (藥鍼) treatment together, and 2 studies tested the effect of Electroacupuncture and Herbal Medicines (藥物) co-treatment. In all the studies, the study groups showed significantly improved intelligence quotient (IQ) in comparison with the control groups. The case report showed improvement of cognitive ability and other clinical parameters as a result of Acupuncture (鍼) and Herbal Medicines co-treatment in juvenile patients with Down's syndrome. Conclusions: Clinical studies testing the effect of TCM for the treatment of Down's syndrome have been conducted in small scales, and all the studies showed a certain level of brain function improvement of the patients in the study groups. These results implicate that the methods in Korean medicine can be highly potential treatment options for the treatment of Down's syndrome. Conduction of accurate and well-controlled studies in large scale would be required to prove the effect of Korean medicine for the treatment of patients with Down's syndrome.

• Clinical and Experimental Pediatrics
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• v.65 no.3
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• pp.142-149
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• 2022

Background: Individuals with Down syndrome present with several impairments such as hypotonia, ligament laxity, decreased muscle strength, insufficient muscular cocontraction, inadequate postural control, and disturbed proprioception. These factors are responsible for the developmental challenges faced by children with Down syndrome. These individuals also present with balance dysfunctions. Purpose: This systematic review aims to describe the motor dysfunction and balance impairments in children and adolescents with Down syndrome. Methods: We searched the Scopus, ScienceDirect, MEDLINE, Wiley, and EBSCO databases for observational studies evaluating the motor abilities and balance performance in individuals with Down syndrome. The review was registered on PROSPERO. Results: A total of 1,096 articles were retrieved; after careful screening and scrutinizing against the inclusion and exclusion criteria, 10 articles were included in the review. Overall, the children and adolescents with Down syndrome showed delays and dysfunction in performing various activities such as sitting, pulling to stand, standing, and walking. They also presented with compensatory mechanisms to maintain their equilibrium in static and dynamic activities. Conclusion: The motor development of children with Down syndrome is significantly delayed due to structural differences in the brain. These individuals have inefficient compensatory strategies like increasing step width, increasing frequency of mediolateral center of pressure displacement, decreasing anteroposterior displacement, increasing trunk stiffness, and increasing posterior trunk displacement to maintain equilibrium. Down syndrome presents with interindividual variations; therefore, a thorough evaluation is required before a structured intervention is developed to improve motor and balance dysfunction.

• Phonetics and Speech Sciences
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• v.9 no.2
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• pp.125-135
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• 2017

The current study examines PCC (percentage of correct consonant), speech intelligibility, and oral motor function between the group of typically developing children and the group of children with Down's syndrome. To 15 children with Down's syndrome (mean CA: 9;7) and 15 typically developing children on receptive language age, the following tests were administered: K-WPPSI (2001), Picture Vocabulary Test (Kim et al., 1995), Oral and Speech Motor Control Protocol for total oral functional score (Robbins et al., 1987), DDK and Assessment of Phonology and Articulation for Children (APAC, Kim et al., 2007) for PCC and speech intelligibility. Pearson correlation coefficients were computed for the total oral functional score, PCC and DDK of each group. The statistical analysis showed that there is no significant difference in total functional score and DDK when IQ was controlled. There was a significant correlation between total oral functional score and PCC in the Down's syndrome group and a significant correlation between total oral functional score and intelligibility in the Down's syndrome group whether IQ was controlled or not. The findings suggest that both cognitive ability and overall oral motor function need to be considered for the intervention to enhance PCC or speech intelligibility of children with Down's syndrome.

• Korean Journal of Health Education and Promotion
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• v.15 no.1
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• pp.97-114
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• 1998

This study's purpose is to clarify the growth pattern of Down Syndrome cases -particulary centering on the adolescent growth pattern - and to draw up a standard growth chart on body height and weight which is one estimation of physical growth for the effective caring of their health. I sampled 269 Down syndrome cases (Male 151, Female 118) whose ages ranged from 6 years of age to adulthood and 348 normal control cases (Male 175, Female 173) who were in same age group with Down Syndrome. We also picked 124 Down syndromes cases(Male 70, Female 54) and gathered 8 year longitudinal data on their body height and weight. The results were that, I found Down syndrome cases' height to be short and their weight to be overweight. As far as age at peak height velocity was concerned, boys were at 11-12 years of age and girls were at 10-11 years of age, showing that girls were about one year faster. Peak height velocity was 6.8cm/yr for boys and 5.4cm/yr for girls. The age at peak weight velocity were 12-13 years for age for boys and 10-11 years of age for girls. Peak weight velocity was 5.7kg/yr for boys and 4.3kg/yr for girls. The menarche age of girls with Down syndrome was anticipated to come about 2 years after peak height velocity and peak weight velocity. Finally, we drew up a standard growth chart and compared it with that of the NCHS, which caused us to come to the conclusion that the Standard Growth Chart for Down syndrome cases in Korea that came out of this study was appropriate for the growth-assesment of Down syndrome.

• Journal of Families and Better Life
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• v.34 no.4
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• pp.89-109
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• 2016

The purposes of this study were to analyze and understand the life of mothers rearing children with Down syndrome and to present basic data for overcoming the difficulties of those families. For these purposes, this study made use of the phenomenological analysis and approach with a qualitative research method. The subjects of this study are 4 mothers rearing children with Down syndrome who are beyond school age. The results were as follows. First, the reason why mothers with Down syndrome children went through psychological shock and horror was the social stigma due to the unusual appearance of children with Down syndrome. Second, the isolation with in the public education system was disclosed as a factor causing much sorrow and pain. Through this, we can recognize the importance of ensuring the equal right to receive education of children with Down syndrome. Third, the period which the mother experienced most shock and confusion was right after finding out about the disability that her child has. So, we can identify the importance of early intervention providing psychotherapy and rearing service to the parents. Fourth, the crucial factor that relieved pain and pressure from mothers was social support including family. Therefore, the social support system for mothers with Down syndrome children has to be developed and strengthened. Fifth, the crucial factor that made mother grow up during rearing experience was the reestablishment of cognition about the desired role of mothers. Through this, we can identify the importance of the mental transition process to independent thinking.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.15 no.2
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• pp.117-121
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• 2012

Down syndrome is a rare cause of neonatal cholestasis. Neonatal cholestasis in a patient with Down syndrome is usually associated with severe liver diseases, such as neonatal hemochromatosis, myeloproliferative disorder and intrahepatic bile duct paucity. We experienced a case of idiopathic neonatal cholestasis in a patient with Down syndrome, which resolved spontaneously.